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Browse Orphanet-curated rare diseases with HPO phenotype annotations, synonyms, and linked support programs. Search by name, abbreviation, or synonym.
Try: "IgA nephropathy", "C3G", "Berger's disease", "PKU", "Duchenne"
Epidermolysis bullosa simplex with mottled pigmentation
EBS-MP · EBS with mottled pigmentation
Anonychia with flexural pigmentation
Primary hemophagocytic lymphohistiocytosis with hypopigmentation
Genetic hemophagocytic lymphohistiocytosis with hypopigmentation · Genetic HLH with hypopigmentation